ACMG position statement on storage of blood spots

14 May 2009

Newborn screening involves the testing of blood samples from newborn babies for various different rare genetic disorders. In some cases, early identification can allow interventions to prevent or ameliorate disease; other potential benefits of early, pre-symptomatic diagnosis include avoiding the need for medical investigations and allowing prompt genetic counselling of families (for example, with reference to the risk of recurrence in future children).

In the US, a wide panel of disorders are included in newborn screening programmes, 29 conditions are deemed mandatory and another 25 secondary conditions have been recommended for inclusion in screening (see previous news). Expanded newborn screening has raised some concerns and a white paper published by the President’s Council of Bioethics discusses some of the ethical implications of newborn screening in the US (see previous news). More recently, the Citizen’s Council on Health Care (CCHC) has also released a report outlining concerns about expanded newborn screening (reported by Medical News Today). Both these reports have expressed concern about provision of informed consent, as with the inclusion of much rarer conditions, it becomes much harder to ensure that people are aware about the test, the consequences of the results (i.e. false positives and negatives) and are appropriately advised about them. Many would contend that allowing parents to refuse testing which is in the best interests of the newborn child is in itself unethical, but for conditions where the clinical benefits of early diagnosis for the affected child are debatable, this argument is perhaps less compelling.

In addition to the issue of informed consent to screening, the CCHC report also expresses reservations about the retention of blood spot specimens and their use in research. Screening newborn involves collection of a small specimen of blood onto filter paper, referred to as dried blood spots, which are subsequently analysed in the laboratory. Left-over specimens are usually stored and used in follow-up testing, monitoring of the screening programme and public health research. In the UK, dried blood spot specimens are usually stored for a period of up to five years and the use of blood spots for research is governed by a Code of Practice,ensuring confidentiality. The debate on whether blood spot specimens can be retained or destroyed after screening, has led the American College of Medical Genetics (ACMG) to release a position statement (see press release). In their statement, the ACMG reaffirm the value of residual blood spots for improving newborn screening and child health. They state that specimens are stored “with rigorous control and respect for privacy and confidentiality to protect the public”. In addition they also recommend that in states that decide not to retain blood spots after screening, individuals should be given the option of depositing their children’s dried blood spots in a national repository.